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1دورية أكاديمية
المؤلفون: Falkenberg, KD, Braverman, NE, Moser, AB, Steinberg, SJ, Klouwer, FCC, Schluter, A, Ruiz, M, Pujol, A, Engvall, M, Naess, K, van Spronsen, F, Korver-Keularts, I, Rubio-Gozalbo, ME, Ferdinandusse, S, Wanders, RJA, Waterham, HR
المصدر: American journal of human genetics. 101(6):965-976
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Waterham, H. R., Koster, J., Ebberink, M. S., Ješina, P., Zeman, J., Nosková, L., Kmoch, S., Devic, P., Cheillan, D., Wanders, R. J. A., Ferdinandusse, S.
المساهمون: Amsterdam UMC - Amsterdam University Medical Center, Medicine Charles University and General Faculty Hospital in Prague, Hôpital neurologique et neurochirurgical Pierre Wertheimer CHU - HCL, Hospices Civils de Lyon (HCL), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Service de Biochimie et Biologie Moléculaire Grand Est HCL, Lyon (Centre de Biologie et de Pathologie)
المصدر: ISSN: 1098-3600.
مصطلحات موضوعية: Autophagy, Metabolic disorder, Peroxisomal disorder, Peroxisome, Peroxisome biogenesis, [SDV]Life Sciences [q-bio]
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37493040; inserm-04431834; https://inserm.hal.science/inserm-04431834Test; https://inserm.hal.science/inserm-04431834/documentTest; https://inserm.hal.science/inserm-04431834/file/1-s2.0-S1098360023009577-main.pdfTest; PUBMED: 37493040
الإتاحة: https://doi.org/10.1016/j.gim.2023.100944Test
https://inserm.hal.science/inserm-04431834Test
https://inserm.hal.science/inserm-04431834/documentTest
https://inserm.hal.science/inserm-04431834/file/1-s2.0-S1098360023009577-main.pdfTest -
3دورية أكاديمية
المؤلفون: Alabdulrazzaq, F, Alanzi, T, Al‐Balool, HH, Gardham, A, Wakeling, E, Leitch, HG, AlSayed, M, Abdulrahim, M, Aladwani, A, Romito, A, Kampe, K, Ferdinandusse, S, Aboelanine, AH, Abdullah, A, Alwadani, A, Bastaki, L, Vaz, FM, Bertoli‐Avella, AM, Marafi, D
المصدر: 15 ; 1
العلاقة: Molecular Genetics and Genomic Medicine; http://hdl.handle.net/10044/1/106315Test
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4دورية أكاديمية
المؤلفون: Tangeraas, T, Sæves, I, Klingenberg, C, Jørgensen, J, Kristensen, E, Gunnarsdottir, G, Hansen, EV, Strand, J, Lundman, E, Ferdinandusse, S, Salvador, CL, Woldseth, B, Bliksrud, YT, Sagredo, C, Olsen, ØE, Berge, MC, Trømborg, AK, Ziegler, A, Zhang, JH, Sørgjerd, LK, Ytre-Arne, M, Hogner, S, Løvoll, SM, Kløvstad Olavsen, MR, Navarrete, D, Gaup, HJ, Lilje, R, Zetterström, RH, Stray-Pedersen, A, Rootwelt, T, Rinaldo, P, Rowe, AD, Pettersen, RD
المصدر: International journal of neonatal screening. 6(3):51
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Lee, RG, Balasubramaniam, S, Stentenbach, M, Kralj, T, McCubbin, T, Padman, B, Smith, J, Riley, LG, Priyadarshi, A, Peng, L, Nuske, MR, Webster, R, Peacock, K, Roberts, P, Stark, Z, Lemire, G, Ito, YA, Boycott, KM, Geraghty, MT, Klinken, JB, Ferdinandusse, S, Zhou, Y, Walsh, R, Marcellin, E, Thorburn, DR, Rosciolli, T, Fletcher, J, Rackham, O, Vaz, FM, Reid, GE, Filipovska, A
العلاقة: pii: 6526744; Lee, R. G., Balasubramaniam, S., Stentenbach, M., Kralj, T., McCubbin, T., Padman, B., Smith, J., Riley, L. G., Priyadarshi, A., Peng, L., Nuske, M. R., Webster, R., Peacock, K., Roberts, P., Stark, Z., Lemire, G., Ito, Y. A., Boycott, K. M., Geraghty, M. T. ,. Filipovska, A. (2022). Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease. HUMAN MOLECULAR GENETICS, 31 (21), pp.3597-3612. https://doi.org/10.1093/hmg/ddac040Test.; http://hdl.handle.net/11343/333188Test
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6دورية أكاديمية
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7دورية أكاديمية
المؤلفون: Hagemeijer, Marne, Oussoren, E, Ruijter, George, Onkenhout, W, Huidekoper, Hidde, Ebberink, Merel, Waterham, Hans R., Ferdinandusse, S, de Vries, Maaike C., Huigen, Marleen C.D.G., Kluijtmans, Leo A.J., Coene, Karlien L.M., Blom, Henk
المصدر: Hagemeijer , M , Oussoren , E , Ruijter , G , Onkenhout , W , Huidekoper , H , Ebberink , M , Waterham , H R , Ferdinandusse , S , de Vries , M C , Huigen , M C D G , Kluijtmans , L A J , Coene , K L M & Blom , H 2021 , ' Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity ' , JIMD Reports , vol. 61 , no. 1 , pp. 12-18 . https://doi.org/10.1002/jmd2.12223Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/jmd2.12223Test
https://pure.eur.nl/en/publications/a763a44f-d6b8-4f2b-b879-69dbdb884871Test
https://pure.eur.nl/ws/files/54936539/JIMD_Reports_2021_Hagemeijer_Abnormal_VLCADD_newborn_screening_resembling_MADD_in_four_neonates_with_decreased.pdfTest -
8دورية أكاديمية
المؤلفون: Welsink-Karssies, M.M. (M. M.), van Weeghel, M. (M.), Hollak, C.E.M. (Carla), Elfrink, H.L. (H. L.), Janssen, M.C.H. (M. C.H.), Lai, K. (K.), Langendonk, J.G. (Janneke), Oussoren, E. (Esmée), Ruiter, J.P.N. (Jos), Treacy, E.P. (E. P.), de Vries, M. (M.), Ferdinandusse, S., Bosch, A.M. (Annet)
المصدر: Molecular Genetics and Metabolism
مصطلحات موضوعية: Classical Galactosemia, Fibroblasts, GALT deficiency, Inborn error of metabolism, Residual galactose metabolism
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/123950Test; urn:hdl:1765/123950
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9دورية أكاديمية
المؤلفون: Welsink-Karssies, MM, Ferdinandusse, S, Geurtsen, GJ, Hollak, CEM, Huidekoper, Hidde, Janssen, M, Langendonk, Janneke, v.d. Lee, JH, O'Flaherty, R, Oostrom, KJ, Roosendaal, Stefan, Rubio-Gozalbo, ME, Saldova, R, Treacy, EP, Vaz, FM, de Vries, MC, Engelen, MP, Bosch, A
المصدر: Welsink-Karssies , MM , Ferdinandusse , S , Geurtsen , GJ , Hollak , CEM , Huidekoper , H , Janssen , M , Langendonk , J , v.d. Lee , JH , O'Flaherty , R , Oostrom , KJ , Roosendaal , S , Rubio-Gozalbo , ME , Saldova , R , Treacy , EP , Vaz , FM , de Vries , MC , Engelen , MP & Bosch , A 2020 , ' Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers ' , Brain Communications , vol. 2 , no. 1 , 06 . https://doi.org/10.1093/braincomms/fcaa006Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1093/braincomms/fcaa006Test
https://pure.eur.nl/en/publications/b1755696-3676-4fe8-82f6-4e174eea5c06Test
https://pure.eur.nl/ws/files/48382537/Repub_131392_O-A.pdfTest -
10دورية أكاديمية
المؤلفون: Welsink-Karssies, MM, van Harskamp, D, Ferdinandusse, S, Hollak, CEM, Huidekoper, Hidde, Janssen, MCH, Kemper, EM, Langendonk, Janneke, Rubio-Gozalbo, ME, de Vries, MC, Wijburg, FA, Schierbeek, H, Bosch, AM
المصدر: Welsink-Karssies , MM , van Harskamp , D , Ferdinandusse , S , Hollak , CEM , Huidekoper , H , Janssen , MCH , Kemper , EM , Langendonk , J , Rubio-Gozalbo , ME , de Vries , MC , Wijburg , FA , Schierbeek , H & Bosch , AM 2020 , ' The 1-C-13 galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 3 , pp. 507-517 . https://doi.org/10.1002/jimd.12207Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/jimd.12207Test
https://pure.eur.nl/en/publications/cf8b8908-4d15-4485-adc2-eb3ea8c6f988Test
https://pure.eur.nl/ws/files/48337409/Repub_128728_O-A.pdfTest